A Novel HECW2 Variant (c.4354G>A; p. Gly1452Ser) in a Chinese Patient with Developmental Delay, Neurodevelopmental Delay, and Hypotonia
Year: 2025
Type: article
Study design: Case Report
Abstract: Introduction: Neurodevelopmental disorders (NDDs) due to the HECW2 (MIM:617245), the pathogenic variant, are extremely rare. HECW2-related disorder has been established through the identification of de novo variants in HECW2 gene in patients with NDDs with hypotonia, seizures, and absent language. Case Presentation: In this study, the clinical and genetic features of a Chinese girl with neurodevelopmental delay, developmental language disorder, and hypotonia are described. Trio whole exome sequencing revealed a novel likely pathogenic variant in HECW2 (exon26: c.4354G>A; p. Gly1452Ser) in the patient, while the variant was absent in her parents with Sanger sequencing. Conclusion: Our objective was to identify the potential site of HECW2, combined with the literature review, to find the correlation between clinical phenotype and genotype.
Source: Molecular Syndromology
DOI: 10.1159/000545680
Authors: Lan Zeng, Jing Nie, Shuyao Zhu, Jin Wang, Yi Deng, Hui Zhu, Xueyan Wang, Na Xi
Institution: Chengdu Medical College
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4409528346